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There are 56166 results for: content related to: Novel mutations of the PRKAR1A gene in patients with acrodysostosis

  1. Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

    Journal of Bone and Mineral Research

    Volume 31, Issue 6, June 2016, Pages: 1215–1224, Francesca Marta Elli, Paolo Bordogna, Luisa de Sanctis, Federica Giachero, Elisa Verrua, Maria Segni, Laura Mazzanti, Valentina Boldrin, Alma Toromanovic, Anna Spada and Giovanna Mantovani

    Version of Record online : 9 FEB 2016, DOI: 10.1002/jbmr.2785

  2. Genetics of Carney Complex

    Standard Article


    Anelia Horvath and Constantine A Stratakis

    Published Online : 15 MAR 2013, DOI: 10.1002/9780470015902.A0024305

  3. Regulatory subunit type I-α of protein kinase A (PRKAR1A): A tumor-suppressor gene for sporadic thyroid cancer

    Genes, Chromosomes and Cancer

    Volume 35, Issue 2, October 2002, Pages: 182–192, Fabiano Sandrini, Ludmila Matyakhina, Nicholas J. Sarlis, Lawrence S. Kirschner, Constantine Farmakidis, Oliver Gimm and Constantine A. Stratakis

    Version of Record online : 27 JUN 2002, DOI: 10.1002/gcc.10112

  4. Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis

    Journal of Bone and Mineral Research

    Volume 32, Issue 2, February 2017, Pages: 333–346, Catherine Le Stunff, Francoise Tilotta, Jérémy Sadoine, Dominique Le Denmat, Claire Briet, Emmanuelle Motte, Eric Clauser, Pierre Bougnères, Catherine Chaussain and Caroline Silve

    Version of Record online : 24 OCT 2016, DOI: 10.1002/jbmr.2987

  5. Mutations of the Gene Encoding the Protein Kinase A Type I-α Regulatory Subunit (PRKAR1A) in Patients with the “Complex of Spotty Skin Pigmentation, Myxomas, Endocrine Overactivity, and Schwannomas” (Carney Complex)

    Annals of the New York Academy of Sciences

    Volume 968, Issue 1, June 2002, Pages: 3–21, CONSTANTINE A. STRATAKIS

    Version of Record online : 24 JAN 2006, DOI: 10.1111/j.1749-6632.2002.tb04323.x

  6. Consistent copy number changes and recurrent PRKAR1A mutations distinguish Melanotic Schwannomas from Melanomas: SNP-array and next generation sequencing analysis

    Genes, Chromosomes and Cancer

    Volume 54, Issue 8, August 2015, Pages: 463–471, Lu Wang, Ahmet Zehir, Justyna Sadowska, Nengyi Zhou, Marc Rosenblum, Klaus Busam, Narasimhan Agaram, William Travis, Maria Arcila, Snjezana Dogan, Michael F. Berger, Donavan T. Cheng, Marc Ladanyi, Khedoudja Nafa and Meera Hameed

    Version of Record online : 29 MAY 2015, DOI: 10.1002/gcc.22254

  7. Evidence that PKA activity is constitutively activated in human GH-secreting adenoma cells in a patient with Carney complex harbouring a PRKAR1A mutation

    Clinical Endocrinology

    Volume 70, Issue 5, May 2009, Pages: 769–775, Koji Takano, Junko Yasufuku-Takano, Koji Morita, Shigetoshi Mori, Mao Takei, Robert Yoshiyuki Osamura, Akira Teramoto and Toshiro Fujita

    Version of Record online : 21 OCT 2008, DOI: 10.1111/j.1365-2265.2008.03457.x

  8. You have free access to this content
    Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!

    FEBS Letters

    Volume 546, Issue 1, July 03, 2003, Pages: 59–64, Sotirios G. Stergiopoulos and Constantine A. Stratakis

    Version of Record online : 6 MAY 2003, DOI: 10.1016/S0014-5793(03)00452-6

  9. Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 97–102, Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, Francois P. Bernier, FORGE Canada Consortium, Jillian S. Parboosingh and A. Micheil Innes

    Version of Record online : 9 NOV 2012, DOI: 10.1002/humu.22222

    Corrected by:

    Erratum: Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis

    Vol. 34, Issue 4, 667, Version of Record online: 11 FEB 2013

  10. Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours

    Clinical Endocrinology

    Volume 57, Issue 4, October 2002, Pages: 443–448, Gregory A. Kaltsas, Blerina Kola, Ninetta Borboli, Damian G. Morris, Maria Gueorguiev, Frankie M. Swords, Sándor Czirják, Lawrence S. Kirschner, Constantine A. Stratakis, Márta Korbonits and Ashley B. Grossman

    Version of Record online : 27 SEP 2002, DOI: 10.1046/j.1365-2265.2002.01643.x

  11. Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas

    Genes, Chromosomes and Cancer

    Volume 44, Issue 2, October 2005, Pages: 204–211, Paola F. Perdigão, Sotirios G. Stergiopoulos, Luiz De Marco, Ludmila Matyakhina, Sosipatros A. Boikos, R. S. Gomez, F. J. G. S. Pimenta and Constantine A. Stratakis

    Version of Record online : 6 JUL 2005, DOI: 10.1002/gcc.20232

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    Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex

    Journal of Internal Medicine

    Volume 266, Issue 1, July 2009, Pages: 60–68, L. S. Kirschner

    Version of Record online : 7 APR 2009, DOI: 10.1111/j.1365-2796.2009.02114.x

  13. You have free access to this content
    Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update

    Human Mutation

    Volume 31, Issue 4, April 2010, Pages: 369–379, Anélia Horvath, Jérôme Bertherat, Lionel Groussin, Marine Guillaud-Bataille, Kitman Tsang, Laure Cazabat, Rosella Libé, Elaine Remmers, Fernande René-Corail, Fabio Rueda Faucz, Eric Clauser, Alain Calender, Xavier Bertagna, J. Aidan Carney and Constantine A. Stratakis

    Version of Record online : 26 MAR 2010, DOI: 10.1002/humu.21178

  14. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes

    Clinical Genetics

    Volume 78, Issue 5, November 2010, Pages: 457–463, CA Stratakis, MA Tichomirowa, S Boikos, MF Azevedo, M Lodish, M Martari, S Verma, AF Daly, M Raygada, MF Keil, J Papademetriou, L Drori-Herishanu, A Horvath, KM Tsang, M Nesterova, S Franklin, J-F Vanbellinghen, V Bours, R Salvatori and A Beckers

    Version of Record online : 23 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01406.x

  15. Eyelid myxoma in Carney complex without PRKAR1A allelic loss

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 4, 1 November 2004, Pages: 395–397, Ekaterini T. Tsilou, Chi-Chao Chan, Fabiano Sandrini, Benjamin I. Rubin, De Fen Shen, J. Aidan Carney, Muriel Kaiser-Kupfer and Constantine A. Stratakis

    Version of Record online : 14 SEP 2004, DOI: 10.1002/ajmg.a.30279

  16. A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations

    Clinical Endocrinology

    Volume 69, Issue 5, November 2008, Pages: 751–755, Monia Gennari, Constantine A. Stratakis, Anelia Hovarth, Piero Pirazzoli and Alessandro Cicognani

    Version of Record online : 28 APR 2008, DOI: 10.1111/j.1365-2265.2008.03286.x

  17. Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma

    The Journal of Pathology

    Accepted manuscript online: 28 MAR 2017, I-Ching Tseng, Wei-Ju Huang, Yu-Ling Jhuang, Ya-Yun Chang, Hung-Pin Hsu and Yung-Ming Jeng

    DOI: 10.1002/path.4899

  18. GH-secreting pituitary adenomas infrequently contain inactivating mutations of PRKAR1A and LOH of 17q23–24

    Clinical Endocrinology

    Volume 58, Issue 4, April 2003, Pages: 464–470, Hiroyuki Yamasaki, Noriko Mizusawa, Shinji Nagahiro, Shozo Yamada, Toshiaki Sano, Mitsuo Itakura and Katsuhiko Yoshimoto

    Version of Record online : 18 MAR 2003, DOI: 10.1046/j.1365-2265.2003.01740.x

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    Carney complex and lentiginosis

    Pigment Cell & Melanoma Research

    Volume 22, Issue 5, October 2009, Pages: 580–587, Anelia Horvath and Constantine A. Stratakis

    Version of Record online : 24 JUL 2009, DOI: 10.1111/j.1755-148X.2009.00613.x

  20. Altered gene expression in Opisthorchis viverrini-associated cholangiocarcinoma in hamster model

    Molecular Carcinogenesis

    Volume 45, Issue 5, May 2006, Pages: 279–287, Watcharin Loilome, Puangrat Yongvanit, Chaisiri Wongkham, Nisana Tepsiri, Banchob Sripa, Paiboon Sithithaworn, Shuji Hanai and Masanao Miwa

    Version of Record online : 21 MAR 2006, DOI: 10.1002/mc.20094